What Is Testicular Feminization?

Androgen resistance refers to a group of clinical syndromes caused by the insufficiency of the androgen effect due to abnormal binding of the androgen receptor and ligand or abnormal signal transmission after the receptor. According to the different degrees of androgen resistance in peripheral tissues, it is divided into complete androgen resistance and partial androgen resistance (PARS). Complete androgen resistance syndrome, also known as testicular feminization syndrome. The term testis feminization was first advocated by Morris. Such patients can show varying degrees of male pseudohermaphroditism and even a completely feminine appearance. Post-pubertal manifestations of primary amenorrhea, good breast development, no uterus and accessories in women in the pelvic cavity; patients with androgen receptor partial deficiency, the external genital phenotype is basically close to the normal male appearance, and these patients are also called Reifenstein's syndrome Sign.

Basic Information

English name: testicular feminization syndrome
Visiting department: Internal medicine

Common causes: Androgen receptor mutation
Common symptoms: Different degrees of male pseudohermaphroditism, even a completely feminine appearance, and the external genitalia are normal female

Causes of testicular feminization syndrome

Androgen receptor mutation. The gene encoding the human androgen receptor is located on chromosome Xq11-22, about 90KB, and contains 8 exons. The androgen receptor consists of three functional domains: a variable N-terminal transcription activation region, a highly conserved DNA binding region, and a moderately conserved C-terminal ligand binding region. After testosterone enters the cell, it is converted into dihydrotestosterone and binds to the receptor by 5-reductase. Although testosterone itself can also bind to the receptor and produce effects, dihydrotestosterone produces a stronger activation effect, which is three times that of testosterone. After binding to dihydrotestosterone, the receptor enters the nucleus and combines with the androgen response element (ARE) to regulate the androgen target gene.

Clinical manifestations of testicular feminization syndrome

The patient's karyotype was normal male (46, XY), and the gonads were normal testes. The external genitalia is normal female type, the labia majora is poorly developed, the blind vagina, 2/3 of the patients have no uterus and fallopian tubes, and the remaining 1/3 only have remains. The epididymis and vas deferens are generally absent. The testis is located in the labia majora, inguinal canal or abdominal cavity. The histological examination of the testis is normal before puberty, and the seminiferous tubules shrink after puberty. The testes have a tendency to develop malignant tumors.

In puberty, women develop secondary sexual characteristics, breast development is the same as normal women, female body shape, pubic hair and axillary hair are scarce, primary amenorrhea, normal intelligence.

Testicular feminization syndrome test

1. Characteristic changes in the plasma hormone profile: increased levels of LH and testosterone. FSH levels are normal or slightly elevated. DHT levels are generally lower than normal. Pre-pubertal patients can choose to do HCG excitation test.

2. Do regular B-ultrasounds to monitor testicular and breast development.

3. Examination of chromosomal genes.

Diagnosis of testicular feminization syndrome

Confirmed by clinical manifestations and laboratory tests as well as chromosome tests.

Testicular feminization syndrome treatment

Children diagnosed before puberty should have regular B-ultrasounds to monitor testicular development. After adolescent breasts are fully developed, the testicles are excised and estrogen replacement therapy is given. If the vagina is too short, mold expansion may sometimes be sufficient to expand and extend the vagina. If mold expansion fails, vaginal angioplasty may be required.